Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2827130158

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480303

ClinVar RCV Id: RCV000563840 RCV000630212 RCV001775884

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Met486Ile	CA366735716 NM_001322011.2:c.1458G>T CA366735717 NM_001322011.2:c.1458G>C CA366735719 NM_001322011.2:c.1458G>A